Table 2. SNPs identified by whole exome sequencing.
Chr | Position | ID | Ref | Alt | Mutation | Symbol | Amino acids | SIFT | PolyPhen |
---|---|---|---|---|---|---|---|---|---|
chr12 | 56717682 | rs745387506 | T | G | missense | NACA | H/P | - | unknown(0) |
chr5 | 141123595 | - | T | A | missense | PCDHB4 | S/T | tolerated (1) | benign(0) |
chr12 | 7190555 | - | G | C | missense | PEX5 | A/P | tolerated (0.22) | benign(0.067) |
chr2 | 240042663 | - | C | T | missense | PRR21 | R/H | tolerated (0.56) | unknown(0) |
chr4 | 1237208 | - | A | T | stop_gained | CTBP1 | C/* | - | - |
chrX | 37010556 | rs61999275 | G | C | missense | FAM47C | A/P | tolerated(1) | benign(0) |
chr1 | 26282352 | rs6667693 | C | A | missense | UBXN11 | G/C | tolerated (0.05) | unknown(0) |
chr1 | 86368686 | rs75376884 | T | C | missense | ODF2L | M/V | tolerated (0.14) | benign(0.001) |
chr4 | 87614868 | - | G | A | missense | DSPP | D/N | - | unknown(0) |
chr4 | 87614877 | rs150132251 | A | G | missense | DSPP | N/D | - | unknown(0) |
chr4 | 88008301 | rs117078377 | G | A | missense | PKD2 | A/T | tolerated(0.3) | benign(0.395) |
chr11 | 71527593 | rs199903176 | A | G | missense | KRTAP5-7 | Y/C | tolerated (0.22) | unknown(0) |
chr12 | 51346625 | rs117443541 | T | G | missense | CELA1 | Y/S | tolerated(0.13) | benign(0.045) |
chr15 | 88856792 | rs12899191 | A | G | missense | ACAN | T/A | tolerated(0.56) | benign(0.084) |
chrX | 104250509 | rs9697856 | T | G | missense | ESX1 | T/P | tolerated (0.54) | unknown(0) |
chr22 | 11068057 | - | A | T | missense | BAGE5 | R/W | tolerated (0.12) | damaging(0.675) |
Chr: chromosome; Ref: reference sequence base; Alt: alternative base identified; SIFT: sorting intolerant from tolerant.